Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance

John R. Giudicessi, Krystien V.V. Lieve, Ram K. Rohatgi, Faruk Koca, David J. Tester, Christian van der Werf, J. Martijn Bos, Arthur A.M. Wilde, Michael J. Ackerman

Research output: Contribution to journal › Article › peer-review

13 Scopus citations

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Medicine & Life Sciences